HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974697G>C , CM000681.2:g.48974697G>C | GRCh38 |
NC_000019.9:g.49477954G>C , CM000681.1:g.49477954G>C | GRCh37 |
NC_000019.8:g.54169766G>C | NCBI36 |
NG_012923.1:g.23657C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1345C>G MANE Select | ENSP00000317904.3:p.Leu449Val | |
ENST00000263276.6:c.1153C>G | ENSP00000263276.6:p.Leu385Val | |
ENST00000323798.7:c.1345C>G | ENSP00000317904.3:p.Leu449Val | |
ENST00000472004.5:n.100C>G | ||
ENST00000496048.1:n.252C>G | ||
NM_001161587.1:c.1153C>G | NP_001155059.1:p.Leu385Val | |
NM_002103.4:c.1345C>G | NP_002094.2:p.Leu449Val | |
NR_027763.1:n.1404C>G | ||
NM_002103.5:c.1345C>G MANE Select | NP_002094.2:p.Leu449Val | |
NM_001161587.2:c.1153C>G | NP_001155059.1:p.Leu385Val | |
NR_027763.2:n.1360C>G |